Congenital non-spherocytic hemolytic anemia.
A family with congenital non-spherocytic hemolytic anemia associated with glucose-6-phosphate dehydrogenase (G6PD) deficiency was studied. Two females, heterozygous for the enzyme deficency, had evidence of a hemolytic anemia. The results of chromium-51 erythrocyte life span studies prior to, during, and after periods of primaquine administration suggested that the hemolytic anemia in these women was due to the presence of two populations of red blood cells in their circulation. One population had normal G6PD levels and a normal life span, whereas the other had diminished enzyme activity and a shortened life span.In vitro metabolic studies of the erythrocytes of a heterozygous female and a hemizygous male suggested that, in spite of G6PD deficiency, the synthesis and breakdown of adenosine triphosphate and 2,3-diphosphoglyceric acid was similar to that in normal erythrocytes.
D000293:Adolescent; D000328:Adult; D000746:Anemia, Hemolytic, Congenital Nonspherocytic / Q000235:genetics* / Q000378:metabolism*; D002648:Child; D002675:Child, Preschool; D002859:Chromium Isotopes; D002986:Clinical Trials as Topic; D004905:Erythrocyte Aging; D004912:Erythrocytes / Q000503:physiopathology*; D005260:Female; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000150:complications*; D006801:Humans; D066298:In Vitro Techniques; D008297:Male; D010710:Phosphates / Q000378:metabolism; D010759:Phosphorus Isotopes
D002859:Chromium Isotopes; D010710:Phosphates; D010759:Phosphorus Isotopes